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  3. CHMP4B
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Cataract

Gene: CHMP4B

Green List (high evidence)
CHMP4B (charged multivesicular body protein 4B)
EnsemblGeneIds (GRCh38): ENSG00000101421
EnsemblGeneIds (GRCh37): ENSG00000101421
OMIM: 610897, Gene2Phenotype
CHMP4B is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported.
Created: 26 Apr 2022, 10:06 a.m. | Last Modified: 26 Apr 2022, 10:06 a.m.
Panel Version: 0.324

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 31, multiple types MIM#605387

Publications

Created: 26 Apr 2022, 10:06 a.m.
Last Modified: 26 Apr 2022, 10:06 a.m.
Panel version: 0.324

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 31, multiple types MIM#605387
OMIM
610897
Clinvar variants
Variants in CHMP4B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chmp4b has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387

26 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHMP4B were set to

26 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHMP4B was added gene: CHMP4B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHMP4B was set to Unknown